Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora, Christine Klein
{"title":"棉兰老岛 X 连锁肌张力障碍-帕金森氏症队列中的临床人口学和遗传修饰相关性。","authors":"Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora, Christine Klein","doi":"10.1002/mdc3.14193","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>X-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.</p><p><strong>Objective: </strong>The aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.</p><p><strong>Methods: </strong>We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.</p><p><strong>Results: </strong>The XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.</p><p><strong>Conclusion: </strong>The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.\",\"authors\":\"Maria Leila M Doquenia, Alfand Marl F Dy Closas, Shela Marie Algodon, Rachel Suarez-Uy, Arlene Ng, Björn-Hergen Laabs, Ana Westenberger, Norbert Brüggemann, Raymond L Rosales, Roland Dominic Jamora, Christine Klein\",\"doi\":\"10.1002/mdc3.14193\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>X-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.</p><p><strong>Objective: </strong>The aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.</p><p><strong>Methods: </strong>We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.</p><p><strong>Results: </strong>The XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.</p><p><strong>Conclusion: </strong>The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.</p>\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-10-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14193\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.14193","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Clinicodemographic and Genetic Modifier Correlation in an X-Linked Dystonia-Parkinsonism Cohort from Mindanao.
Background: X-linked dystonia-parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical or genetic characteristics compared to those documented in earlier reports.
Objective: The aim was to investigate the relationship of XDP clinical features in a Mindanao cohort with modifiers of age at onset (AAO) variability and utilization of a previously reported AAO model.
Methods: We investigated clinical and genetic features in 27 XDP patients from southern Mindanao. In all patients, we genotyped the 4 polymorphisms linked to AAO.
Results: The XDP-relevant hexanucleotide repeat number significantly correlated with AAO in the 27 patients and explained about 68% of AAO variability. There is no statistical difference between the predicted and actual AAO.
Conclusion: The AAO model may provide reliable predictions by employing the effect of XDP genetic modifiers of AAO variability.
期刊介绍：
Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)
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